Title: Committee Report: Considerations and Recommendations for National Guidance
Regarding the Retention and Use of Residual Dried Blood Spot Specimens after Newborn
Screening
Short Title: National Guidance Regarding Residual Dried Blood Spots
Authors: Bradford L. Therrell, Jr., M.S., Ph.D., Director, National Newborn Screening and
Genetics Resource Center and Professor, Department of Pediatrics, University of Texas Health
Science Center at San Antonio
W. Harry Hannon*, Ph.D., Consultant, National Newborn Screening and Genetics Resource
Center
Donald B. Bailey, Jr., Ph.D., Distinguished Fellow, RTI International
Edward B. Goldman, J.D., Associate Professor, Department of Obstetrics and Gynecology,
University of Michigan
Jana Monaco, parent, SACHDNC member
Bent Norgaard-Pedersen, M.D., D.M.Sc, Professor Emeritus, Department of Clinical
Biochemistry and Immunology, Statens Serum Institut, Denmark
Sharon F. Terry, M.A., President and CEO, Genetic Alliance, Liaison representative to the
SACHDNC
Alaina Harris, M.S.W., M.P.H., SACHDNC staff
Lisa M. Vasquez, M.P.A., SACHDNC staff
Alissa Johnson, M.A., Johnson Policy Consulting
Michele A. Lloyd-Puryear. M.D., Ph.D., Executive Secretary, SACHDNC
R. Rodney Howell, M.D., Chair, SACHDNC
*Corresponding author-- W. Harry Hannon, Ph.D., Consultant, NNSGRC, 4929 Duncans Lake
1
Point, Buford, GA 30519, Email: whannon@bellsouth.net, Tel# 770-315-0650, Fax# 512-4546509
CONFLICTS OF INTEREST There are no conflicts of interest to report from any of the
authors.
ABSTRACT
Newborn screening (NBS) programs are state-based with variable policies. Guidance regarding
the retention, storage and use of portions of NBS dried blood spots that remain after screening
(residual specimens) was first published in 1996. Since then, NBS programs have paid increased
attention to specimen storage and usage issues. Standard residual specimen uses include quality
assurance and program evaluation, treatment efficacy, test refinement and result verification. In
all cases, privacy and security are primary concerns. In general, two distinct state practices
regarding the storage and use of residual NBS specimens exist: 1) short-term storage (<3 years),
primarily for standard program uses; and 2) long-term storage (> 18 years), for standard program
uses and possible important public health research uses. Recently, there have been concerns in
some consumer communities regarding both the potential uses of residual specimens and patient
(newborn and family) privacy. To assist in policy improvements that can protect the individual’s
privacy and allow for important public health uses of residual NBS specimens, the Secretary of
Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and
Children has developed recommendations (with requested action by the Secretary where
applicable). This report presents the Committee’s recommendations and reviews pertinent
associated issues.
Keywords: newborn, blood spots, policy, screening, specimen repositories
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INTRODUCTION Newborn screening (NBS) is a highly successful public health program
that identifies inherited genetic and other congenital disorders that can cause functional
problems, and seeks to ensure early follow-up and management for those affected. All states
require NBS. State public health agencies are responsible for oversight and implementation of
their respective NBS activities. State NBS policies are usually developed with input from multidisciplinary advisory committees that include consumers,1 health care and public health
professionals and other stakeholders. While state administration of NBS programs fosters local
control and accountability, it also gives rise to variations in practice, including disparate policies
on the retention and use of dried blood spot specimens after NBS. Given the potential to advance
science and clinical care for newborns, children, their families and society, the Secretary of
Health and Human Services’ (HHS) Advisory Committee on Heritable Disorders in Newborns
and Children (SACHDNC) calls upon policymakers, the public health community, health care
providers and families to work together to protect these valuable resources for the public good.
Issues and policies concerning the storage and use of NBS dried blood spots following
completion of laboratory testing are not new. Heightened public awareness and continuing
emphasis on national discussions and recommendations to guide state-based NBS programs on
these issues has led to actions by the SACHDNC. The Committee began investigating the
storage and use of residual blood spots in February 2009, and a writing group was approved to
develop a white paper for their September 2009 meeting. An executive summary of the paper
was distributed for public comment, including three webinars hosted by the Association of
Public Health Laboratories (220 participants from 49 states); the National Coordinating Center
for the Regional Genetics Collaboratives (38 participants); and the Genetic Alliance (106
participants). Subsequently, public input was combined with Committee and stakeholder
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comments and incorporated into the paper. A formal request for public comment was published
in the Federal Register on April 26, 2010.2 During this public comment period, SACHDNC
encouraged the Institute on Medicine to convene a public forum on the use and storage of
residual specimens for translational research.3 The final report recommendations were developed
based on input from approximately 550 individuals, 13 organizations and the Committee, and it
was approved for submission to the Secretary of HHS. A letter describing the process and
outlining the SACHDNC recommendations was sent to Secretary Sebelius on October 13, 2010.4
The final report discusses both the underlying issues and SACHDNC recommendations and was
prepared as a means of documenting all aspects of SACHDNC activities on this subject. [See
GIM on-line publication.]
This report has two principal purposes. The first is to review the issues facing state NBS
programs related to the retention and use of residual dried blood spot specimens. The second is
to lay the foundation for developing national guidance in this area. The SACHDNC encourages
an approach to guidance that maintains the standard uses of the residual blood specimens and
upholds the core principles of benefiting newborns, families and society. Newborn screening
programs must protect privacy and confidentiality and ensure the public’s trust while recognizing
the potential research value of residual NBS specimens for advancing science and clinical care.
The recommendations related to the retention and use of residual dried blood spot specimens are
intended to work in concert with – and not to weaken – long-standing and highly effective state
NBS programs. Successful NBS must remain the prime objective of these public health
programs.
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RECOMMENDATIONS
The SACHDNC has made the following recommendations to the
Secretary, HHS regarding storage and use of residual dried blood spots after completion of NBS,
and action by the Secretary has been requested where applicable:
All state newborn screening programs should have a policy in place that has been reviewed by
the state attorney general or other appropriate legal authority that specifies who may access
and use dried blood specimens once they arrive at the state-designated newborn screening
laboratory, including further access after newborn screening tests are completed. All U.S.
NBS programs obtain dried blood specimens on an approved filter paper collection device.5
These specimens are collected on nearly all of the more than 4 million babies born in the country
annually. NBS programs generally retain the unused portions of these specimens (residual
specimens) in a secure location for some period after testing is complete. The primary
justification for retaining residual specimens is to document that a specimen was collected,
received, and properly analyzed.
State NBS programs are charged with being responsible stewards of these specimens —
stewardship is defined as the caretaking responsibility in which responsibilities and policies are
clearly defined to ensure appropriate uses of NBS specimens. It is understood that the public has
a right to expect that specimens are cared for in a manner that protects personal information and
eliminates misuse and mistrust. As a result, state public health departments strive to exercise the
highest care in receiving, storing and protecting residual NBS specimens from unauthorized use.
The potential research value of residual NBS specimens has increased the need for national
harmonization of specimen storage and specimen access policies for both ethical and legal
reasons. Identifying a standard set of key issues to be addressed in a comprehensive policy
regarding access and use of residual NBS specimens, regardless of the approach, should facilitate
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greater uniformity among state programs. Multidisciplinary input, including from consumers,
should be solicited and thoughtfully considered in developing such a policy. The public should
have easy access to information describing the state NBS residual specimen access and use
policy.
All state newborn screening programs should have a policy in place that has been reviewed by
the state attorney general or other appropriate legal authority addressing the disposition of
dried blood specimens remaining after newborn screening. Policymakers should consider the
value of the specimens as a promising resource for research, the importance of protecting the
privacy and confidentiality of families and the necessity of ensuring the public’s trust. State
processes for residual NBS specimen storage should strive to secure the specimens, protect the
privacy of the newborn and their families, and promote public trust. State policies also should
emphasize transparency of administrative practices and create supporting information that
encourages informed public participation. With increased public awareness of stored residual
NBS specimens, concerns have emerged that personal medical information such as disease
susceptibility might be revealed from these specimens through current and future technological
advances.6 Concerns focus on possible discrimination, psychological harm, identification of
paternity, and social injustices.7 However, there are no documented cases of harm resulting from
the use of residual NBS specimens. In addition to the federal privacy laws and state policies
specific to the storage and use of NBS specimens, state genetic privacy laws, other broader state
health privacy laws and regulations, and medical standards of practice may affect the storage and
use of residual NBS specimens.8.9.10
6
Any NBS specimen disposition policy should take into account the standard program uses
[program evaluation and quality assurance, treatment efficacy, test refinement and result
verification activities for the laboratory and program] after NBS laboratory testing. The
specimen disposition policy also should include the storage conditions and length of time for
which specimens will be stored, in concurrence with NCCLS/CLSI Standard LA4-A5 or its
current edition.5 Linkages of data to personally identifiable information should be carefully
addressed, and privacy and confidentiality should be ensured. Parties responsible for drafting the
policy should consider whether consent or dissent from families is necessary for uses (such as
research) other than NBS laboratory testing and the associated standard program uses, and, if so,
under what circumstances. Families and the public should have easy access to information about
the state’s NBS specimen disposition policy. Multidisciplinary input, including from consumers,
should be solicited and thoughtfully considered in developing a NBS residual specimen
disposition policy.
All state newborn screening programs should develop a well-defined strategy to educate health
care professionals who provide patients with prenatal and postnatal care about newborn
screening and the potential uses of residual newborn screening specimens. Better public
understanding and acceptance of state NBS policies on the possible storage and use of residual
NBS specimens depends heavily on the involvement of health care providers. Studies validate
the need for better physician education to meet the educational needs of the screening
program.11,12 The role of the obstetrician as an educator in the NBS process has been defined,13
and the American College of Obstetricians and Gynecologists (ACOG) has published a position
paper—ACOG Committee on Genetics Opinion—that encourages its members to become aware
and involved in state NBS efforts.14 However, most obstetricians still do not appear to educate
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their patients about NBS.11,12 The strategy should include steps to inform and train health care
professionals about the NBS system, the state’s policy on the potential use of residual NBS
specimens, and their educational responsibilities with respect to expectant parents and parents of
newborns. Educational programs primarily should focus on prenatal care providers. Education of
postnatal care providers should instruct them to follow-up on prenatal educational efforts and be
cognizant of new parents who did not have access to prenatal care, and, therefore, did not receive
prior information about the NBS system.
All state newborn screening programs should create policies that are in compliance with
federal research regulations, assure that parents are aware of these activities, and consider
whether documentation of parents’ wishes and willingness to participate are required.15 The
state attorney general or other appropriate legal authority should review this process. The
SACHDNC emphasizes that the use of residual NBS specimens for standard program uses are
valid components of the public health NBS program, and, therefore, do not require additional
consent. Once the use of a residual NBS specimens moves beyond the state NBS mandate and
related standard program uses, each state needs to consider whether separate or blanket
consent/dissent processes for approved studies are required from parents, legal guardians or
individuals screened (upon reaching the age of majority) for using residual NBS specimens.
All state newborn screening programs should work proactively to ensure that all families of
newborns are educated about newborn screening as a part of prenatal and postnatal care. As
part of the educational process, all state NBS programs should maintain and distribute
educationally and culturally appropriate information that includes basic information about the
uses or potential uses of residual NBS specimens. Processes should be in place to evaluate the
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extent, timing and parental comprehension of NBS education with a focus on educational
program improvement. While NBS educational programs should concentrate on the prenatal
period, they also should be designed to reach parents who do not have access to those services
and therefore may require in-hospital education about NBS. Educational materials should
address potential uses of residual NBS specimens, long-term storage policies, options for parents
regarding storage and use of specimens, and information on specimen stewardship.
The Secretary of Health and Human Services should help improve efforts to educate the
public and health care providers about newborn screening and the retention and use of
specimens. Educational programs should be developed that take into account existing resources
for the public on the importance of NBS and the potential uses of residual NBS specimens to
generate population-based knowledge about health and disease. Educational materials directed to
health care professionals and consumers with facts about potential uses of residual NBS
specimens and other related issues should be developed. Administrative support and funding
should be provided to the Health Resources and Services Administration, Maternal and Child
Health Bureau through grant awards to states for developing these programs and materials.
The Secretary of Health and Human Services should facilitate a national dialogue among
federal and state stakeholders about policies for the retention and use of residual newborn
screening specimens, including model consent and dissent processes. National guidance
should be developed for consent and dissent for the secondary use of NBS specimens and
mechanisms to ensure privacy and confidentiality, including methods for opting in or out of
residual dried blood spot repositories and options for children whose specimens are stored once
they reach the age of majority. In addition, data should be collected and analyzed nationally on
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the utility of any additional consent or dissent processes implemented relative to potential
research uses of residual NBS specimens. The HHS Secretary should encourage states to defer
making permanent policy changes that would result in prematurely destroying specimens until
guidance is available for their consideration and use in establishing such policies. Administrative
support and funding should be provided to the SACHDNC to facilitate this dialogue and develop
this guidance.
The Secretary of Health and Human Services should explore the utility and feasibility of
establishing a voluntary national repository of residual dried blood specimens, in which
parents may choose to participate. The use of residual newborn screening specimens for test
development and research has accelerated discovery and has resulted in direct public health
benefits.16,17 For example, studies in Wisconsin and Massachusetts, which aimed to identify
children with Severe Combined Immune Deficiency (SCID) (MIM#’s 102700, 602450, 611291,
601457, 300400, 600802, 608971, 269840), also provided previously unavailable data so that
SACHDNC could make an evidence-based decision about whether to add SCID to the nationally
recommended uniform newborn screening panel.17,18 SCID was recommended for addition to the
uniform core screening panel in January 2010 and approved by the HHS Secretary in May 2010.
So that these essential types of activities may continue, additional funding should be made
available to the Centers for Disease Control and Prevention and the National Institutes of Health
to draft policies and guidelines that address the support and maintenance of the repository,
stewardship of the specimen collection (including access and retention policies), establishing
oversight systems, and addressing legal and ethical issues, including state law variations.
10
CONCLUSION Since the NBS community first published guidance regarding the retention,
storage and use of residual NBS specimens,19 improvements in policy development among state
NBS programs have occurred. Nevertheless, aspects of the current public policy environment,
including differing or lacking state policies on the need for explicit consent (an opt-in approach
to secondary use of residual dried blood specimens) or dissent (an opt-out approach to secondary
use of residual dried blood specimens that presumes consent unless explicitly refused),20
potential uncertainty about authority over decision-making with regard to residual NBS
specimens in states without a well-defined policy, and minimal public awareness of NBS, send
an unclear message to the public about the purpose of storage and use of residual NBS blood
specimens. This has engendered public concern about the storage of residual NBS specimens
even for standard NBS program uses.
In light of growing use of residual NBS specimens, and their potential secondary applications,
proactive solutions should be envisaged to ensure proper public education, parental choice,
including an informed process for consent or dissent, and protection of genetic privacy and
confidentiality.21 All programs seeking to store residual NBS specimens should strive for public
trust and transparency of operations and policies. Public health organizations should encourage
open and informed dialogue with the public as part of the screening process.
Because NBS is the only public health screening program that reaches the entire population of
newborns in the U.S., it is unique, and the policies governing it must be thoughtfully approached.
The storage and use of residual blood specimens for non-standard uses such as research may not
be adequately addressed in current state laws or policies. Policies developed for the storage and
use of residual dried blood specimens for research should not harm long-standing and highly
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effective state NBS programs, including their ability to store and use specimens for essential
program activities. Rather, these policies should strengthen these well-established public health
programs through increased public education and engagement. The SACHDNC believes that
national guidance on the retention and use of residual NBS specimens would help states to
navigate these complex issues. Understanding that policymakers need to weigh the benefits and
costs of NBS, guidance should address the costs associated with the infrastructure for the storage
and use of residual NBS specimens and the financing of the NBS system. Public confidence and
trust must be sustained in all activities related to handling, retaining and using residual dried
blood spots.
1
Consumers refers to the definition in the Newborn Screening American Health Information
Community Detailed Use Case: “Members of the public that include patients as well as
caregivers, patient advocates, surrogates, family members, emergency contacts, and other parties
who may be acting for, or in support of, a patient receiving or potentially receiving healthcare
services.” American Health Information Community, Newborn Screening: AHIC Detailed Use
Case. Washington, D.C.: U.S. Department of Health and Human Services, Office of the National
Coordinator for Health Information Technology, 2008.
2
Federal Register, 2010. Available at: http://www.federalregister.gov/articles/2010/04/26/2010-
9625/secretarys-advisory-committee-on-heritable-disorders-in-newborns-and-children Accessed
January 25, 2011.
3
Institute of Medicine, 2010. Available at: http://iom.edu/Activities/Research/
GenomicBasedResearch/2010-MAY-24.aspx Accessed on January 25, 2011.
4
SACHDNC, 2010. Available at: http://www.hrsa.gov/heritabledisorderscommittee/
correspondence/HowellLettertoSebeliusOct132010.pdf Accessed on January 25, 2011.
12
5
Clinical and Laboratory Standards Institute (CLSI). Blood collection on filter paper for
newborn screening programs; approved standard—fifth edition. CLSI document LA4-A5.
Wayne, PA: Clinical and Laboratory Standards Institute, 2007.
6
McEwen JE, Reilly PR. Stored Guthrie cards as DNA banks. Am J Hum Genet 1994;55:196–
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Annas GJ. Privacy rules for DNA databanks. JAMA 1993 Nov 17;270(19):2346-50.
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Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United
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Scheck B. DNA data banking: A cautionary tale. Am J Hum Genet 1994;54:931–933.
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Hasegawa LE, Au SM, Matsumoto CA. The obstetrician's role in newborn metabolic
screening: a physician survey. Hawaii Med J 2005;64:239-43.
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Faulkner LA, Feuchtbaum LB, Graham S, Bolstad JP, Cunningham GC. The newborn
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Larsson A, Therrell BL. Newborn screening: the role of the obstetrician. Clin Obstetr Gynecol
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National Institutes of Health, Code of Federal Regulations, Protection of Human Subjects,
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16
Comeau AM. Newborn Screening Expansion: Massachusetts Research Models Encompass
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Socio-Ethical and Legal Perspectives. Leiden: Martinus Nijhoff International (Brill), 2007:4553.
17
Institute of Medicine (IOM). Challenges and Opportunities in Using Residual Newborn
Screening Samples For Translational Research: Workshop Summary. Washington, D.C.: The
National Academies Press, 2010.
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Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening
protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009 Sep;124(3):5227.
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Therrell BL, Hannon WH, Pass KA, et al. Guidelines for the retention, storage, and use of
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